G242V (p.Gly242Val) variant of ATP1A3 (P13637)
G242V (p.Gly242Val) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G242V (p.Gly242Val) variant details
- p.Gly242Val
- rs1555864935
- ClinGen CA406053287
- ClinVar RCV003239250
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available